Marjolin's Ulcer in Laron Syndrome - an Unexpected Combination: A Case Report.

Marjolin's ulcer is an atypical malignancy that develops from deep scars of chronically traumatised skin. Laron syndrome (LS) is a rare autosomal recessive growth retardation from a mutation in the growth hormone receptor (GHR) gene leading to defective GHR, growth hormone insensitivity and eventual low levels of insulin-like growth factor type 1 (IGF-1). Affected individuals present with proportionate dwarfism and other characteristic physical defects, but at the same time are conferred protection against cancer due to low serum levels of IGF-1. We report an exceptional case of Marjolin's ulcer in the foot of a female LS patient 30 years after she sustained flame burns as a 6-month-old baby. Three months before coming to us, she had a 2x3cm ulcer that turned into a rapidly enlarging fungating mass involving the leg, ankle, and foot. Histopathologic analysis of an incision biopsy showed well-differentiated squamous cell carcinoma. The extent of her lesion precluded wide excision. Below knee amputation was done. A second biopsy confirmed the histopathologic diagnosis. This is the first reported case in the literature of Marjolin's ulcer in LS which raises the possibility that IGF-1 deficiency does not completely protect against squamous cell cancer.

Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.

Maple syrup urine disease (MSUD) is a very rare disorder of branched-chain amino acid metabolism. However, it is the most common inborn error of metabolism in the Philippines. We present a retrospective review of 21 patients diagnosed with MSUD between 1999 and 2004. The patients presented clinically between 2 and 14 days of life (mean 5 days) and the diagnosis of MSUD was established between 6 days and 11 months of age (mean 39 days). The classical burnt sugar odour was noted in the majority of patients (81%). The diagnosis of MSUD was initially based on clinical suspicion and confirmed biochemically by measurement of leucine/isoleucine levels by thin-layer chromatography. The acute management included removal of accumulated branched-chain amino acids by peritoneal dialysis in 62% of the patients. Mortality rate of this group of patients was 24% and follow-up rate was 87%. We compared this series with a previously reported series of 26 patients to determine whether diagnosis and the management of MSUD improved over the two periods. Four cases have been diagnosed early since 1992, the majority of whom had the classic form of MSUD with the onset of symptoms in the first two weeks of life. A small subset of patients with early nonspecific symptoms was diagnosed much later owing to a low-level clinical suspicion among clinicians. Overall, however, there appears to be a small but general trend towards earlier diagnosis, reduced mortality and long-term follow up in the later series. Although we are able to diagnose and manage MSUD in the Philippines, we recognize that the clinical outcome remains poor and is due mainly to late referral of cases and inadequate long-term management. In the Philippines, we recommend that all newborns who are considered to be septic, have feeding difficulties, fail to regain their birth weight or present with any other symptoms suggestive of MSUD be evaluated in the first instance by analysis of urine for ketones and if they are positive have blood collected and sent to our laboratory for leucine/isoleucine measurement.

Pyoderma gangrenosum of the hand: a case series and review of the literature.

Pyoderma gangrenosum is a rapidly developing cutaneous ulcer that is rare in the hand and may mimic a fulminating infection. The correct treatment is nonsurgical; surgery may actually incite a pathergic response worsening the condition. Misdiagnosis results in inappropriate treatment, unnecessary surgery, and even amputations. The records of 7 patients with pyoderma gangrenosum of the hand treated at 2 large academic medical centers between 1992 and 1999 were reviewed. There were 4 men and 3 women with an average age of 58 years (range, 32-81 years). Five patients had bilateral involvement. Minor trauma preceded the appearance of the lesions. An associated systemic disease was found in all patients with ulcerative colitis being the most common (3 patients). All patients initially had a misdiagnosis of infection. Thirteen misdiagnoses (range, 1-3/patient) resulted in 16 unnecessary surgeries (mean, 2.2/patient) including 4 amputations and 2 failed skin grafts. No surgical procedure resulted in clinical improvement. All cultures were negative. Several physicians (mean, 5; range, 3-7) examined each patient before the final diagnosis of pyoderma gangrenosum, which was made by, or in conjunction with, a dermatologist in all cases. The average time to clinical improvement after correct medical treatment was initiated was 5 days.

Incidencia de ocorrencias diversas na Maternidade Prof. Monteiro de Moraes no ano de 1979. / Incidence of various occurences at the Maternity Prof Monteiro de Moraes in the year 1979

Houve 8.172 internamentos na Maternidade Prof. Monteiro de Moraes no ano de 1979.Destes, 6305 foram partos, dos quais, 935 cesareas. Houve 1.230 abortamentos correspondendo tal cifra a 19,5% do numero total de partos. Nos 6.305 partos havidos foram identificadas as seguintes ocorrencias obstetricas com os respectivos percentuais gravidez serotina 464 (7,4%); macrossomia fetal 364 (5,8%); eclampsia 33 (0,5%); apresentacao pelvica 202 (3,2%); descolamento prematuro da placenta normalmente inserida 53 (0,8%); placenta previa 43 (0,7%); rotura de utero 6 (0,09%); infeccao puerperal 113 (1,8%); parto gemelar 63 (1,0%) e 16 casos de prenhez ectopica representando 0,2% do total de gravidezes. O obituario materno foi de 14,87% e o perinatal 40%